Precision Medicine in Phaeochromocytoma and Paraganglioma.
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Publication Date
2021-11-22Journal Title
J Pers Med
ISSN
2075-4426
Publisher
MDPI AG
Volume
11
Issue
11
Language
eng
Type
Article
This Version
VoR
Metadata
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Winzeler, B., Challis, B. G., & Casey, R. T. (2021). Precision Medicine in Phaeochromocytoma and Paraganglioma.. J Pers Med, 11 (11) https://doi.org/10.3390/jpm11111239
Abstract
Precision medicine is a term used to describe medical care, which is specifically tailored to an individual patient or disease with the aim of ensuring the best clinical outcome whilst reducing the risk of adverse effects. Phaeochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumours with uncertain malignant potential. Over recent years, the molecular profiling of PPGLs has increased our understanding of the mechanisms that drive tumorigenesis. A high proportion of PPGLs are hereditary, with non-hereditary tumours commonly harbouring somatic mutations in known susceptibility genes. Through detailed interrogation of genotype-phenotype, correlations PPGLs can be classified into three different subgroups or clusters. Thus, PPGLs serve as an ideal paradigm for developing, testing and implementing precision medicine concepts in the clinic. In this review, we provide an overview of PPGLs and highlight how detailed molecular characterisation of these tumours provides current and future opportunities for precision oncology.
Keywords
Paraganglioma, Neuroendocrine Tumours, Personalized Medicine, Molecular Clusters, Phaeochromocytoma
Sponsorship
GIST SUPPORT UK (n/a)
Identifiers
PMC8620689, 34834591
External DOI: https://doi.org/10.3390/jpm11111239
This record's URL: https://www.repository.cam.ac.uk/handle/1810/332469
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